Varaico: Literature-Extracted Genetic Variants

SCN4A

1,107 papers

RefSeq Summary

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible fo...

Pfam Domains

Ion_transaa 130–458UCSCIon transport protein

Ion_transaa 577–812UCSCIon transport protein

Na_trans_assocaa 816–1026UCSCSodium ion transport-associated

Ion_transaa 1030–1306UCSCIon transport protein

Ion_transaa 1352–1609UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 4

HGNC Previous Symbol

HYKPP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000334.4

p.I1596V

c.4786A>G

Surrounding Variants

1 paper

NM_000334.4

p.A1595S

c.4783G>T

1 paper

NM_000334.4

p.A1595P

c.4783G>C

1 paper

NM_000334.4

p.I1594V

c.4780A>G

6 papers

NM_000334.4

p.Y1593*

c.4779C>G

6 papers

NM_000334.4

p.Y1593*

c.4779C>A

1 paper

NM_000334.4

p.E1599D

c.4797G>T

1 paper

NM_000334.4

p.E1599D

c.4797G>C

114 papers

NM_000334.4

p.M1592V

c.4774A>G

1 paper

NM_000334.4

p.N1600T

c.4799A>C

1 paper

NM_000334.4

p.N1591T

c.4772A>C

1 paper

NM_000334.4

p.V1590I

c.4768G>A

2 papers

NM_000334.4

p.V1589A

c.4766T>C